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12. Syndrome d'hypoglycosylation des glycoprotéines sériques

Author

Sandrine Vuillaumier-Barrot, Cormier-Daire, Maryvonne Cuer, J. M. Saudubray, Geneviève Durand, de Lonlay P, Nathalie Seta, and Arnold Munnich

Subjects
medicine.medical_specialty, Psychomotor retardation, business.industry, Encephalopathy, Hypoglycemia, medicine.disease, Gastroenterology, Hypotonia, Liver disease, Gastrointestinal disorder, Tubulopathy, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, medicine.symptom, business, Nephrotic syndrome
Abstract

Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the glycosylation of serum transferrin and attributed to different enzymatic defects; their clinical presentations are fully different and a clinical heterogeneity is observed within a same type of CDGS. Patients with CDGS type la usually present with neurologic (hypotonia, strabismus and cerebellar hypoplasia) and cutaneous (inverted nipples, abnormal distribution of adipose tissue) abnormalities, together with multivisceral involvement (digestive, hepatic, cardiac, renal). However, neurologic and cutaneous symptoms may be absent, so that CDGS must be looked for in case of unexplained organ failure such as isolated liver insufficiency, cardiomyopathy, pericarditis, tubulopathy, nephrotic syndrome, vascular accident or retinitis pigmentosa. Patients with CDGS type Ib present with liver disease, enteropathy and hypoglycemia without neurologic involvement. These patients are successfully treated with oral mannose administration emphasizing the importance of making the diagnosis. Patients with CDGS type Ic present with mild psychomotor retardation and seizures. Patients with CDGS type II have psychomotor retardation association with severe gastrointestinal disorder, dysmorphic features and abnormal electroretinogram. Other types (III, IV) are less clearly defined and the clinical presentation includes convulsive encephalopathy. Biological abnormalities such as mild hepatic cytolysis, hematologic and hormonal abnormalities are consistently observed in CDGS type I, as well as renal hyperechogeneity, leading one to look for this syndrome when they are associated. Until now, only four enzymatic deficiencies have been identified (types Ia, Ib, Ic, II).

Published
2000

16. Déficit en décarboxylase des acides amines aromatiques (AADC) chez dix patients français : particularités phénotypiques

Author

Spitz, M.-A., primary, Nguyen, M.-A., additional, Ogier, H., additional, Roche, S., additional, Garcia, N., additional, Roze, E., additional, Gras, D., additional, De Pontual, L., additional, Heron, B., additional, Milh, M., additional, Chabrol, B., additional, Cano, A., additional, Bahi-Buisson, N., additional, Desguerre, I., additional, De Lonlay, P., additional, Lion-François, L., additional, Testard, H., additional, Damaj, L., additional, Napuri, S., additional, Barth, M., additional, Küster, A., additional, Rivier, F., additional, Fournier-Favre, S., additional, Christa, L., additional, Moussa, F., additional, Benoist, J.-F., additional, Ottolenghi, C., additional, Vianey-Saban, C., additional, Corne, C., additional, and Roubertie, A., additional

Published
2013
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17. Déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) : consensus français pour le dépistage, le diagnostic, et la prise en charge

Author

Feillet, F., primary, Ogier, H., additional, Cheillan, D., additional, Aquaviva, C., additional, Labarthe, F., additional, Baruteau, J., additional, Chabrol, B., additional, de Lonlay, P., additional, Valayanopoulos, V., additional, Garnotel, R., additional, Dobbelaere, D., additional, Briand, G., additional, Jeannesson, E., additional, Vassault, A., additional, and Vianey-Saban, C., additional

Published
2012
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26. Déficit en monoamine décarboxylase

Author

Arnold Munnich, de Lonlay P, Billette de Villemeur T, Launay Jm, J. M. Saudubray, D. Martin, and F. Poggi-Travert

Subjects
Monoamine neurotransmitter, Text mining, business.industry, Chemistry, Pediatrics, Perinatology and Child Health, Pharmacology, business
Published
1996

30. Déficit en monoamine décarboxylase

Author

Billette de Villemeur, T, primary, de Lonlay, P, additional, Poggi-Traver, F, additional, Martin, D, additional, Launay, JM, additional, Munnich, A, additional, and Saudubray, JM, additional

Published
1996
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31. Failure to thrive and intestinal diseases in congenital disorders of glycosylation

Author

Zentilin Boyer, M., de Lonlay, P., Seta, N., Besnard, M., Pélatan, C., Ogier, H., Hugot, J.P., Faure, C., Saudubray, J.M., Navarro, J., and Cézard, J.P.

Subjects
*GENETIC disorders, *GLYCOSYLATION, *MULTIPLE organ failure, *GLYCOPROTEINS, *INTESTINAL diseases, *FAILURE to thrive syndrome, *CHILDREN
Abstract

Congenital disorders of glycosylation type I (GDG-I) is a class of genetic multisystem disorders characterised by defective glycosylation of glycoproteins. The characteristics and mechanisms of failure to thrive and intestinal diseases present in CDG-I are anectodal.Patients and methods. – The aim of this study was to analyse 7 CDG-I (4 CDG-Ia, 2 CDG-Ib and 1 CDG-Ix) with important digestive symptoms and failure to thrive in order to characterise the mechanisms implied.Results. – Four children had no skin abnormality or dysmorphia (1 CDG-Ia, 2 CDG-Ib, 1 CDG-Ix). An encephalopathy with cerebellar hypoplasia was present only in the 4 CDG-Ia. Failure to thrive and diarrhea were present during the first month of life in 6 and appeared at 5 years in one CDG-Ia associated to mild or severe hepatopathy in all patients. One CDG-Ia, 1 CDG-Ib, 1 CDG-Ix had an exsudative enteropathy. A positive steatorrhea was present in 3 patients. Five patients had an abnormal small bowel biopsy. Abnormalities were variable: moderate inflammation of the chorion without villous atrophy in 2, intra-enterocyte fat accumulation without villous atrophy in 2, and partial villous atrophy with lymphangectasia in 1. In 2 CDG-Ia the intestinal biopsy was normal. Enteral nutrition in 4 and parenteral nutrition in 2 were effective in 4 patients and 1 patient with an exsudative enteropathy respond to a free fat diet (CDG-Ix).Conclusion. – The digestive symptoms with failure to thrive is a common feature of CDG-I and could be the first symptoms. The diagnostic should be suspected if no other cause is found. Mechanisms of the intestinal symptoms appear to be multiple such as inflammation, abnormal enterocyte lipid transport or intestinal permeability related to the abnormal glycosylation of intestinal mucosa glycoproteins. [Copyright &y& Elsevier]

Published
2003
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32. Haematological manifestations of inborn errors of metabolism.

Author

de Lonlay, P., Fenneteau, O., Touati, G., Mignot, C., Billette de Villemeur, T., Rabier, D., Blanche, S., Ogier de Baulny, H., and Saudubray, J.M.

Subjects
*INBORN errors of metabolism, *METABOLIC disorders
Abstract

Haematological symptoms can be helpful for the diagnosis of metabolic diseases. A megaloblastic anemia orientates to folate and cobalamine anomalies when associated with homocystinemia and decreased plasma methionine levels, or to congenital oroticuria (hypochromia), Pearson syndrome (sideroblasts and vacuolisation of precursors) and thiamine transporter abnormality (sideroblasts) in the absence of homocystinuria. An hemolytic anemia orientates to anomalies of anaerobic glycolysis, heme synthesis, or iron metabolism, and Wilson disease. A pancytopenia orientates to organic aciduria, lysinuric protein intolerance, mevalonic aciduria and lysosomal storage diseases (Gaucher, Niemann Pick, Wolman) when hepatosplenomegaly is present. Uremic hemolytic syndrome and hemophagocytic lymphohistiocytosis respectively orientate to B12 anomalies, lysinuric protein intolerance, lysosomal storage diseases and organic aciduria. [ABSTRACT FROM AUTHOR]

Published
2002
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